Variant report

Variant	rs4853720
Chromosome Location	chr2:191463602-191463603
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10451566	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11897266	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12464923	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12472240	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12473460	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12613365	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12615925	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619125	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12619560	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12621493	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622496	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12693576	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12987797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013848	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13019278	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13028201	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029743	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13391723	0.83[CHB][hapmap]
rs2043990	0.80[CEU][hapmap]
rs34274882	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34417560	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34825614	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36055519	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3811609	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4073873	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4129081	0.95[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs4264585	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4324342	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4853508	0.85[EUR][1000 genomes]
rs4853512	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4853718	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4853721	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55754136	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55987230	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6434400	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707773	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6711006	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72911109	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7560318	0.95[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs7601745	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7608180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:191450600-191464400	Weak transcription	Right Atrium	heart
3	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:191456600-191465000	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
7	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
8	chr2:191457200-191467000	Weak transcription	Brain Angular Gyrus	brain
9	chr2:191458400-191468200	Weak transcription	Left Ventricle	heart
10	chr2:191460400-191464400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:191461000-191463800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:191461200-191464000	Enhancers	NHEK	skin
13	chr2:191461400-191463800	Enhancers	HMEC	breast
14	chr2:191461400-191464000	Enhancers	NHDF-Ad	bronchial
15	chr2:191461400-191464200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:191461400-191464600	Enhancers	Osteobl	bone
17	chr2:191461600-191464800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:191461600-191464800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
20	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:191462600-191464400	Weak transcription	Fetal Heart	heart
22	chr2:191463000-191463800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:191463000-191465400	Enhancers	Hela-S3	cervix
24	chr2:191463200-191464200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:191463200-191464200	Enhancers	HUVEC	blood vessel
26	chr2:191463200-191465400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:191463400-191464000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:191463400-191464200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:191463400-191464800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:191463400-191465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:191463600-191463800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:191463600-191463800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:191463600-191463800	Enhancers	Stomach Mucosa	stomach
34	chr2:191463600-191464000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:191463600-191464000	Enhancers	Dnd41	blood
36	chr2:191463600-191464800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:191463600-191464800	Enhancers	GM12878-XiMat	blood
38	chr2:191463600-191465400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:191463600-191468800	Weak transcription	Brain Anterior Caudate	brain

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